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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 7-116953668-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=116953668&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 116953668,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_021908.3",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST7",
"gene_hgnc_id": 11351,
"hgvs_c": "c.128A>C",
"hgvs_p": "p.Lys43Thr",
"transcript": "NM_001369598.1",
"protein_id": "NP_001356527.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 577,
"cds_start": 128,
"cds_end": null,
"cds_length": 1734,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000323984.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369598.1"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST7",
"gene_hgnc_id": 11351,
"hgvs_c": "c.128A>C",
"hgvs_p": "p.Lys43Thr",
"transcript": "ENST00000323984.8",
"protein_id": "ENSP00000325673.3",
"transcript_support_level": 5,
"aa_start": 43,
"aa_end": null,
"aa_length": 577,
"cds_start": 128,
"cds_end": null,
"cds_length": 1734,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001369598.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000323984.8"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST7",
"gene_hgnc_id": 11351,
"hgvs_c": "c.128A>C",
"hgvs_p": "p.Lys43Thr",
"transcript": "ENST00000265437.9",
"protein_id": "ENSP00000265437.5",
"transcript_support_level": 1,
"aa_start": 43,
"aa_end": null,
"aa_length": 585,
"cds_start": 128,
"cds_end": null,
"cds_length": 1758,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000265437.9"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST7",
"gene_hgnc_id": 11351,
"hgvs_c": "c.128A>C",
"hgvs_p": "p.Lys43Thr",
"transcript": "ENST00000393451.7",
"protein_id": "ENSP00000377097.3",
"transcript_support_level": 1,
"aa_start": 43,
"aa_end": null,
"aa_length": 554,
"cds_start": 128,
"cds_end": null,
"cds_length": 1665,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000393451.7"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST7",
"gene_hgnc_id": 11351,
"hgvs_c": "c.128A>C",
"hgvs_p": "p.Lys43Thr",
"transcript": "ENST00000903533.1",
"protein_id": "ENSP00000573592.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 609,
"cds_start": 128,
"cds_end": null,
"cds_length": 1830,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903533.1"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST7",
"gene_hgnc_id": 11351,
"hgvs_c": "c.128A>C",
"hgvs_p": "p.Lys43Thr",
"transcript": "NM_021908.3",
"protein_id": "NP_068708.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 585,
"cds_start": 128,
"cds_end": null,
"cds_length": 1758,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_021908.3"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST7",
"gene_hgnc_id": 11351,
"hgvs_c": "c.128A>C",
"hgvs_p": "p.Lys43Thr",
"transcript": "ENST00000946966.1",
"protein_id": "ENSP00000617025.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 575,
"cds_start": 128,
"cds_end": null,
"cds_length": 1728,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946966.1"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST7",
"gene_hgnc_id": 11351,
"hgvs_c": "c.128A>C",
"hgvs_p": "p.Lys43Thr",
"transcript": "NM_001369601.1",
"protein_id": "NP_001356530.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 572,
"cds_start": 128,
"cds_end": null,
"cds_length": 1719,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369601.1"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST7",
"gene_hgnc_id": 11351,
"hgvs_c": "c.128A>C",
"hgvs_p": "p.Lys43Thr",
"transcript": "ENST00000393449.5",
"protein_id": "ENSP00000377095.1",
"transcript_support_level": 5,
"aa_start": 43,
"aa_end": null,
"aa_length": 572,
"cds_start": 128,
"cds_end": null,
"cds_length": 1719,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000393449.5"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST7",
"gene_hgnc_id": 11351,
"hgvs_c": "c.128A>C",
"hgvs_p": "p.Lys43Thr",
"transcript": "NM_001369604.1",
"protein_id": "NP_001356533.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 562,
"cds_start": 128,
"cds_end": null,
"cds_length": 1689,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369604.1"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST7",
"gene_hgnc_id": 11351,
"hgvs_c": "c.128A>C",
"hgvs_p": "p.Lys43Thr",
"transcript": "ENST00000446490.5",
"protein_id": "ENSP00000402934.1",
"transcript_support_level": 5,
"aa_start": 43,
"aa_end": null,
"aa_length": 557,
"cds_start": 128,
"cds_end": null,
"cds_length": 1674,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000446490.5"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST7",
"gene_hgnc_id": 11351,
"hgvs_c": "c.128A>C",
"hgvs_p": "p.Lys43Thr",
"transcript": "NM_018412.4",
"protein_id": "NP_060882.2",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 554,
"cds_start": 128,
"cds_end": null,
"cds_length": 1665,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018412.4"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST7",
"gene_hgnc_id": 11351,
"hgvs_c": "c.128A>C",
"hgvs_p": "p.Lys43Thr",
"transcript": "ENST00000903532.1",
"protein_id": "ENSP00000573591.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 549,
"cds_start": 128,
"cds_end": null,
"cds_length": 1650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903532.1"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST7",
"gene_hgnc_id": 11351,
"hgvs_c": "c.128A>C",
"hgvs_p": "p.Lys43Thr",
"transcript": "ENST00000923796.1",
"protein_id": "ENSP00000593855.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 546,
"cds_start": 128,
"cds_end": null,
"cds_length": 1641,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923796.1"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST7",
"gene_hgnc_id": 11351,
"hgvs_c": "c.128A>C",
"hgvs_p": "p.Lys43Thr",
"transcript": "ENST00000946967.1",
"protein_id": "ENSP00000617026.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 533,
"cds_start": 128,
"cds_end": null,
"cds_length": 1602,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946967.1"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST7",
"gene_hgnc_id": 11351,
"hgvs_c": "c.128A>C",
"hgvs_p": "p.Lys43Thr",
"transcript": "ENST00000393446.6",
"protein_id": "ENSP00000377092.2",
"transcript_support_level": 5,
"aa_start": 43,
"aa_end": null,
"aa_length": 523,
"cds_start": 128,
"cds_end": null,
"cds_length": 1572,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000393446.6"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST7",
"gene_hgnc_id": 11351,
"hgvs_c": "c.128A>C",
"hgvs_p": "p.Lys43Thr",
"transcript": "ENST00000923797.1",
"protein_id": "ENSP00000593856.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 473,
"cds_start": 128,
"cds_end": null,
"cds_length": 1422,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923797.1"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST7",
"gene_hgnc_id": 11351,
"hgvs_c": "c.128A>C",
"hgvs_p": "p.Lys43Thr",
"transcript": "ENST00000903534.1",
"protein_id": "ENSP00000573593.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 457,
"cds_start": 128,
"cds_end": null,
"cds_length": 1374,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903534.1"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST7",
"gene_hgnc_id": 11351,
"hgvs_c": "c.128A>C",
"hgvs_p": "p.Lys43Thr",
"transcript": "ENST00000923798.1",
"protein_id": "ENSP00000593857.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 426,
"cds_start": 128,
"cds_end": null,
"cds_length": 1281,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923798.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST7",
"gene_hgnc_id": 11351,
"hgvs_c": "c.-226A>C",
"hgvs_p": null,
"transcript": "NM_001369607.1",
"protein_id": "NP_001356536.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 504,
"cds_start": null,
"cds_end": null,
"cds_length": 1515,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369607.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST7",
"gene_hgnc_id": 11351,
"hgvs_c": "c.-226A>C",
"hgvs_p": null,
"transcript": "ENST00000417919.5",
"protein_id": "ENSP00000391444.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 61,
"cds_start": null,
"cds_end": null,
"cds_length": 186,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000417919.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST7",
"gene_hgnc_id": 11351,
"hgvs_c": "n.128A>C",
"hgvs_p": null,
"transcript": "ENST00000438863.5",
"protein_id": "ENSP00000390830.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000438863.5"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
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{
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{
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{
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{
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"exon_count": 16,
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{
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"feature": "NR_161422.1"
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{
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"gene_symbol": "ST7",
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"transcript": "NR_161423.1",
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"feature": "NR_161423.1"
},
{
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"protein_coding": false,
"strand": true,
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],
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"gene_symbol": "ST7-OT4",
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"feature": "ENST00000397750.7"
},
{
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"protein_coding": false,
"strand": true,
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],
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"gene_symbol": "ST7-OT4",
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"transcript": "NR_002329.2",
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"biotype": "pseudogene",
"feature": "NR_002329.2"
}
],
"gene_symbol": "ST7",
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"dbsnp": null,
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.2897212505340576,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.145,
"revel_prediction": "Benign",
"alphamissense_score": 0.7471,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.37,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.818,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_021908.3",
"gene_symbol": "ST7",
"hgnc_id": 11351,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.128A>C",
"hgvs_p": "p.Lys43Thr"
},
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NR_002330.1",
"gene_symbol": "ST7-AS1",
"hgnc_id": 16000,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.667T>G",
"hgvs_p": null
},
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000397750.7",
"gene_symbol": "ST7-OT4",
"hgnc_id": 18835,
"effects": [
"upstream_gene_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.-231A>C",
"hgvs_p": null
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}